Variant report

Variant	rs730084
Chromosome Location	chr8:61651398-61651399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:61651015-61651421	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr8:61650798-61651671	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61646233..61649362-chr8:61650520..61653582,3	K562	blood:
2	chr8:61650732..61652286-chr8:61655462..61657046,2	K562	blood:
3	chr8:61651342..61653464-chr8:61667353..61670158,2	K562	blood:

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13261519	1.00[ASN][1000 genomes]
rs13269361	1.00[ASN][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	1.00[ASN][1000 genomes]
rs16926398	1.00[ASN][1000 genomes]
rs16926440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	1.00[ASN][1000 genomes]
rs28539276	1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34833917	1.00[ASN][1000 genomes]
rs35777815	1.00[ASN][1000 genomes]
rs41272442	1.00[ASN][1000 genomes]
rs62524908	0.86[EUR][1000 genomes]
rs62524913	0.86[EUR][1000 genomes]
rs62524942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524949	0.86[EUR][1000 genomes]
rs62524950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524951	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524956	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526484	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62526485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6471895	1.00[ASN][1000 genomes]
rs7013969	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
3	chr8:61638600-61654000	Weak transcription	NHEK	skin
4	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:61645000-61651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:61645000-61651800	Weak transcription	Fetal Brain Female	brain
9	chr8:61645000-61654200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:61645000-61654200	Weak transcription	Colonic Mucosa	Colon
11	chr8:61645200-61651400	Weak transcription	Fetal Kidney	kidney
12	chr8:61645200-61651400	Weak transcription	Pancreas	Pancrea
13	chr8:61645200-61654200	Weak transcription	Fetal Intestine Large	intestine
14	chr8:61645400-61655000	Weak transcription	A549	lung
15	chr8:61646200-61651400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:61646200-61652200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:61646200-61656400	Weak transcription	Liver	Liver
18	chr8:61646400-61654400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:61647000-61653600	Weak transcription	Fetal Brain Male	brain
20	chr8:61647200-61651400	Weak transcription	Right Atrium	heart
21	chr8:61647400-61651400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:61647400-61655200	Weak transcription	HepG2	liver
23	chr8:61648400-61652000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:61648600-61653800	Weak transcription	Primary B cells from cord blood	blood
25	chr8:61648600-61654200	Weak transcription	Primary T cells from cord blood	blood
26	chr8:61648800-61651400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:61648800-61652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:61648800-61654000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:61648800-61654200	Weak transcription	Fetal Thymus	thymus
30	chr8:61648800-61656600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
32	chr8:61649000-61654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:61649000-61654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:61649200-61651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:61649200-61651400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61649200-61651400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:61649200-61651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:61649200-61651600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:61649200-61651600	Weak transcription	Brain Substantia Nigra	brain
41	chr8:61649200-61652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:61649200-61652400	Weak transcription	Brain Angular Gyrus	brain
43	chr8:61649200-61653400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:61649200-61653600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:61649200-61654200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:61649200-61654200	Weak transcription	Fetal Stomach	stomach
47	chr8:61649200-61654200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:61649200-61654200	Weak transcription	Spleen	Spleen
49	chr8:61649200-61654400	Weak transcription	Gastric	stomach
50	chr8:61649200-61654600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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